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 Posté le: Sam Sep 14, 2013 2:56 am Sujet du message: Paracyclist's rare illness won't deter Olympic dre |
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{Paracyclist's rare illness won't deter Olympic dream}
Tom Staniford hated being picked up as a toddler, something his parents just couldn't understand. At the age of 12, he visibly began to lose fat from his face, limbs and even the soles of his feet. In addition, his hearing began to deteriorate. His parents became even more perplexed and concerned."I was just like any other kid, but without a protective cover of fat, my skin did not stretch," he said. "My muscles tightened to provide a form of protection, and it was that which made being picked up very painful. But at the time, we didn't know any of this."Tom's father Andrew was in the army and the family - his mother Jane and younger brother Joe - moved regularly, travelling from Cyprus and Hamburg to Kuwait and Wales before finally settling in Devon. The many doctors he saw during his childhood and teens were baffled by the lack of fat on Tom's body, his failure to gain weight and his hearing loss.Despite his mystery ailment, Staniford went on to become one of Britain's leading paracyclists.It wasn't until this year, at the age of 24, that he finally learned the cause of his condition. Doctors told him that he has MDP syndrome (Mandibular Hypoplasia, Deafness and Progeroid Features), one of the rarest genetic disorders in the world. Only seven other people - in India, Italy, the U.S., Germany and Canada - are also known to be affected.MDP is a complex, progressive disorder characterized by a number of features, the most striking of which is the body's inability to store fat beneath the skin.Being super-lean may sound attractive, but it is not that simple, said Staniford. "I can get 'fat' although I'll never look it on the outside. I'm genetically predisposed to store fat around my internal organs, far more than a normal person would. This isn't healthy, so I have to be very careful with my diet."It is a cruel irony that he has also developed type 2 diabetes - a condition normally associated with obesity. His inability to process fat in the normal way has rendered his body's cells insensitive to insulin, the hormone responsible for regulating blood sugar levels. Like other type 2 diabetics, he has to monitor his diet, and takes medication to help control his blood sugar levels.As a result of MDP syndrome, Staniford, at 6ft 3in (191 centimetres), weighs a mere 64 kilograms and, as he himself says, his "wizened" appearance gives the impression that he is far older than his years. Without the natural cushioning provided by subcutaneous fat, his limbs easily become stiff and he is at high risk of fracture in any cycling accident.His skin is thin, while his body's failure to convert fat into energy,[url=http://woolrich-outlet-online.blogspot.com]woolrich jackets[/url], coupled with low testosterone levels (this explains why his condition began to show at puberty) means he struggles to recover from vigorous exercise.A lack of fat also means that he has difficulty regulating his body temperature, particularly during winter, when he suffers greatly from the cold. He must also wear hearing aids.Earlier this year, scientists at the University of Exeter's Medical School, who have worked with Staniford for several years, identified the single genetic mutation responsible for his condition. Geneticist Michael Weedon was among the team that mapped and analyzed Staniford's DNA using the latest technology, known as exome sequencing, to isolate and identify the gene (called POLD1) carrying the abnormality.With such a rare disease, little is known about the outlook for Staniford, although he is being intensively monitored.As a child watching the Tour de France on TV, he had been drawn to the bright colours of the jerseys, the gleaming bikes and the beautiful mountain terrain."In time I turned to cycling. When I was 16 I bought my first road bike with the drop handlebars and skinny tires and that's when it really hit me - 'This is my hobby, I'm going to start training.' " In 2011, he became the youngest solo British national paracycling circuit race champion and fosters ambitions to compete in the 2016 Paralympics in Rio."There's no saying how things might change, and in terms of treatments, I have no idea," he says. "But Rio is definitely my long-term goal."
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